A novel mutation of LRSAM1 in a Chinese family with Charcot ‐Marie‐Tooth disease

We report a novel LRSAM1 mutation c.2021‐2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves.

Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Authors: Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu Tags: CASE REPORT Source Type: research